Histopathology of the human inner ear in Alström's syndrome

Audiol Neurootol. 2015;20(4):267-72. doi: 10.1159/000381935. Epub 2015 Jun 24.

Abstract

Alström's syndrome is an autosomal recessive syndromic genetic disorder caused by mutations in the ALMS1 gene. Sensorineural hearing loss occurs in greater than 85% of patients. Histopathology of the inner ear abnormalities in the human has not previously been fully described. Histopathology of the inner ear in Alström's syndrome is presented in 2 genetically confirmed cases. The predominant histopathologic correlates of the sensorineural loss were degeneration of the organ of Corti, both inner and outer hair cells, degeneration of spiral ganglion cells, and atrophy of the stria vascularis and spiral ligament.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Alstrom Syndrome / complications
  • Alstrom Syndrome / pathology*
  • Alstrom Syndrome / physiopathology
  • Audiometry, Pure-Tone
  • Ear, Inner / pathology*
  • Ear, Inner / physiopathology
  • Evoked Potentials, Auditory, Brain Stem
  • Female
  • Hair Cells, Auditory, Inner / pathology
  • Hair Cells, Auditory, Outer / pathology
  • Hearing Loss, Sensorineural / etiology
  • Hearing Loss, Sensorineural / pathology*
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Male
  • Organ of Corti / pathology
  • Spiral Ganglion / pathology
  • Spiral Ligament of Cochlea / pathology
  • Stria Vascularis / pathology